chrom large_stringclasses 5
values | pos int64 286k 308M | ref large_stringclasses 4
values | alt large_stringclasses 4
values | AC int64 4 2.3k | AN int64 2.45k 2.45k | AF float64 0 0.94 | MAF float64 0 0.5 | consequence large_stringclasses 11
values | original_consequence large_stringclasses 18
values |
|---|---|---|---|---|---|---|---|---|---|
1 | 6,192,348 | C | T | 16 | 2,448 | 0.006536 | 0.006536 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 6,192,432 | T | C | 6 | 2,448 | 0.002451 | 0.002451 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 6,192,595 | C | T | 348 | 2,448 | 0.142157 | 0.142157 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 6,192,722 | T | C | 1,772 | 2,448 | 0.723856 | 0.276144 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 6,192,840 | A | G | 1,062 | 2,448 | 0.433824 | 0.433824 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 6,224,374 | C | T | 64 | 2,448 | 0.026144 | 0.026144 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 6,225,155 | A | G | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant |
1 | 6,226,799 | A | G | 20 | 2,448 | 0.00817 | 0.00817 | intron_variant | intron_variant |
1 | 6,228,332 | G | T | 126 | 2,448 | 0.051471 | 0.051471 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 6,253,379 | T | A | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 6,265,768 | G | C | 240 | 2,448 | 0.098039 | 0.098039 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 6,365,650 | T | A | 124 | 2,448 | 0.050654 | 0.050654 | synonymous_variant | synonymous_variant |
1 | 6,372,642 | C | T | 1,308 | 2,448 | 0.534314 | 0.465686 | missense_variant | missense_variant |
1 | 6,372,817 | C | A | 258 | 2,448 | 0.105392 | 0.105392 | grouped_start_stop | stop_gained |
1 | 6,477,064 | T | C | 672 | 2,448 | 0.27451 | 0.27451 | downstream_gene_variant | downstream_gene_variant |
1 | 6,477,236 | A | G | 342 | 2,448 | 0.139706 | 0.139706 | downstream_gene_variant | downstream_gene_variant |
1 | 6,479,671 | C | T | 18 | 2,448 | 0.007353 | 0.007353 | missense_variant | missense_variant |
1 | 6,483,230 | G | C | 214 | 2,448 | 0.087418 | 0.087418 | upstream_gene_variant | upstream_gene_variant |
1 | 6,516,096 | T | C | 2,106 | 2,448 | 0.860294 | 0.139706 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 6,780,833 | T | C | 210 | 2,448 | 0.085784 | 0.085784 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 6,785,138 | C | G | 1,572 | 2,448 | 0.642157 | 0.357843 | missense_variant | missense_variant |
1 | 6,785,950 | A | T | 1,558 | 2,448 | 0.636438 | 0.363562 | intron_variant | intron_variant |
1 | 6,864,112 | A | G | 270 | 2,448 | 0.110294 | 0.110294 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 6,864,556 | C | A | 4 | 2,448 | 0.001634 | 0.001634 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 6,871,096 | G | A | 208 | 2,448 | 0.084967 | 0.084967 | grouped_splice_region | splice_donor_5th_base_variant |
1 | 7,012,480 | A | T | 1,254 | 2,448 | 0.512255 | 0.487745 | intergenic_variant | intergenic_variant |
1 | 7,017,694 | G | C | 28 | 2,448 | 0.011438 | 0.011438 | missense_variant | missense_variant |
1 | 7,021,481 | G | T | 650 | 2,448 | 0.265523 | 0.265523 | downstream_gene_variant | downstream_gene_variant |
1 | 7,239,307 | G | T | 234 | 2,448 | 0.095588 | 0.095588 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 7,242,306 | C | T | 220 | 2,448 | 0.089869 | 0.089869 | grouped_start_stop | stop_gained |
1 | 7,254,005 | C | G | 6 | 2,448 | 0.002451 | 0.002451 | intergenic_variant | intergenic_variant |
1 | 7,256,965 | A | T | 596 | 2,448 | 0.243464 | 0.243464 | intergenic_variant | intergenic_variant |
1 | 7,287,975 | G | A | 2,012 | 2,448 | 0.821895 | 0.178105 | synonymous_variant | synonymous_variant |
1 | 7,288,517 | G | C | 6 | 2,448 | 0.002451 | 0.002451 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 7,300,377 | G | T | 938 | 2,448 | 0.38317 | 0.38317 | grouped_start_stop | stop_gained |
1 | 7,300,645 | A | G | 544 | 2,448 | 0.222222 | 0.222222 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 7,301,229 | G | T | 4 | 2,448 | 0.001634 | 0.001634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 7,301,408 | A | G | 736 | 2,448 | 0.300654 | 0.300654 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 7,337,102 | A | G | 204 | 2,448 | 0.083333 | 0.083333 | upstream_gene_variant | upstream_gene_variant |
1 | 7,342,407 | C | T | 12 | 2,448 | 0.004902 | 0.004902 | downstream_gene_variant | downstream_gene_variant |
1 | 7,348,820 | C | A | 10 | 2,448 | 0.004085 | 0.004085 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 7,401,188 | G | A | 14 | 2,448 | 0.005719 | 0.005719 | synonymous_variant | synonymous_variant |
1 | 7,433,617 | C | A | 184 | 2,448 | 0.075163 | 0.075163 | grouped_start_stop | stop_gained |
1 | 7,497,059 | C | T | 54 | 2,448 | 0.022059 | 0.022059 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 7,506,460 | T | G | 616 | 2,448 | 0.251634 | 0.251634 | grouped_start_stop | stop_lost |
1 | 7,507,831 | C | T | 4 | 2,448 | 0.001634 | 0.001634 | synonymous_variant | synonymous_variant |
1 | 7,508,555 | C | A | 114 | 2,448 | 0.046569 | 0.046569 | intron_variant | intron_variant |
1 | 7,511,697 | G | T | 12 | 2,448 | 0.004902 | 0.004902 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 7,780,479 | C | T | 924 | 2,448 | 0.377451 | 0.377451 | missense_variant | missense_variant |
1 | 7,814,151 | G | A | 32 | 2,448 | 0.013072 | 0.013072 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 7,989,002 | C | A | 16 | 2,448 | 0.006536 | 0.006536 | synonymous_variant | synonymous_variant |
1 | 8,096,365 | G | A | 4 | 2,448 | 0.001634 | 0.001634 | grouped_splice_region | splice_region_variant |
1 | 8,223,092 | C | T | 12 | 2,448 | 0.004902 | 0.004902 | missense_variant | missense_variant |
1 | 8,253,086 | C | T | 22 | 2,448 | 0.008987 | 0.008987 | intergenic_variant | intergenic_variant |
1 | 8,311,519 | C | G | 366 | 2,448 | 0.14951 | 0.14951 | missense_variant | missense_variant |
1 | 8,423,367 | T | C | 1,934 | 2,448 | 0.790033 | 0.209967 | intron_variant | intron_variant |
1 | 8,424,331 | C | T | 26 | 2,448 | 0.010621 | 0.010621 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 8,488,789 | C | T | 398 | 2,448 | 0.162582 | 0.162582 | grouped_splice_region | splice_region_variant |
1 | 8,510,838 | G | A | 446 | 2,448 | 0.18219 | 0.18219 | grouped_splice_region | splice_region_variant |
1 | 8,531,597 | T | C | 126 | 2,448 | 0.051471 | 0.051471 | downstream_gene_variant | downstream_gene_variant |
1 | 8,606,115 | C | A | 20 | 2,448 | 0.00817 | 0.00817 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 8,607,341 | G | A | 112 | 2,448 | 0.045752 | 0.045752 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 8,607,832 | T | G | 1,082 | 2,448 | 0.441993 | 0.441993 | upstream_gene_variant | upstream_gene_variant |
1 | 8,609,340 | A | C | 10 | 2,448 | 0.004085 | 0.004085 | intergenic_variant | intergenic_variant |
1 | 8,612,403 | G | T | 80 | 2,448 | 0.03268 | 0.03268 | missense_variant | missense_variant |
1 | 8,638,084 | C | A | 1,274 | 2,448 | 0.520425 | 0.479575 | grouped_start_stop | stop_gained |
1 | 8,725,860 | G | A | 942 | 2,448 | 0.384804 | 0.384804 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 8,726,022 | G | A | 10 | 2,448 | 0.004085 | 0.004085 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 8,726,049 | C | T | 10 | 2,448 | 0.004085 | 0.004085 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 8,726,062 | G | A | 10 | 2,448 | 0.004085 | 0.004085 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 8,726,138 | T | C | 1,046 | 2,448 | 0.427288 | 0.427288 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 8,727,672 | C | T | 676 | 2,448 | 0.276144 | 0.276144 | grouped_start_stop | stop_gained |
1 | 8,729,704 | G | T | 456 | 2,448 | 0.186275 | 0.186275 | grouped_start_stop | start_lost |
1 | 8,917,546 | G | A | 266 | 2,448 | 0.10866 | 0.10866 | grouped_start_stop | start_lost |
1 | 8,949,770 | C | T | 116 | 2,448 | 0.047386 | 0.047386 | upstream_gene_variant | upstream_gene_variant |
1 | 8,950,775 | C | T | 144 | 2,448 | 0.058824 | 0.058824 | downstream_gene_variant | downstream_gene_variant |
1 | 9,047,512 | A | C | 1,284 | 2,448 | 0.52451 | 0.47549 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 9,047,547 | C | T | 14 | 2,448 | 0.005719 | 0.005719 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 9,047,704 | C | A | 6 | 2,448 | 0.002451 | 0.002451 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 9,047,813 | C | A | 286 | 2,448 | 0.11683 | 0.11683 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 9,048,140 | A | T | 40 | 2,448 | 0.01634 | 0.01634 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant |
1 | 9,056,717 | T | C | 4 | 2,448 | 0.001634 | 0.001634 | grouped_start_stop | start_lost |
1 | 9,279,832 | C | T | 1,634 | 2,448 | 0.667484 | 0.332516 | synonymous_variant | synonymous_variant |
1 | 9,361,206 | C | T | 4 | 2,448 | 0.001634 | 0.001634 | intergenic_variant | intergenic_variant |
1 | 9,427,048 | A | G | 1,160 | 2,448 | 0.473856 | 0.473856 | synonymous_variant | synonymous_variant |
1 | 9,427,654 | G | A | 364 | 2,448 | 0.148693 | 0.148693 | synonymous_variant | synonymous_variant |
1 | 9,428,128 | A | G | 46 | 2,448 | 0.018791 | 0.018791 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 9,441,914 | T | A | 20 | 2,448 | 0.00817 | 0.00817 | intergenic_variant | intergenic_variant |
1 | 9,516,966 | T | C | 1,640 | 2,448 | 0.669935 | 0.330065 | grouped_splice_region | splice_polypyrimidine_tract_variant |
1 | 9,529,763 | A | G | 1,566 | 2,448 | 0.639706 | 0.360294 | intron_variant | intron_variant |
1 | 9,531,331 | G | A | 340 | 2,448 | 0.138889 | 0.138889 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 9,575,213 | G | T | 60 | 2,448 | 0.02451 | 0.02451 | missense_variant | missense_variant |
1 | 9,963,624 | G | A | 268 | 2,448 | 0.109477 | 0.109477 | downstream_gene_variant | downstream_gene_variant |
1 | 10,044,016 | C | T | 86 | 2,448 | 0.035131 | 0.035131 | grouped_start_stop | stop_gained |
1 | 10,045,185 | G | A | 1,312 | 2,448 | 0.535948 | 0.464052 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 10,045,188 | A | G | 4 | 2,448 | 0.001634 | 0.001634 | 3_prime_UTR_variant | 3_prime_UTR_variant |
1 | 10,193,615 | G | A | 442 | 2,448 | 0.180556 | 0.180556 | 5_prime_UTR_variant | 5_prime_UTR_variant |
1 | 10,196,328 | C | A | 718 | 2,448 | 0.293301 | 0.293301 | upstream_gene_variant | upstream_gene_variant |
1 | 10,673,677 | A | G | 582 | 2,448 | 0.237745 | 0.237745 | grouped_splice_region | splice_donor_variant |
1 | 10,679,505 | C | G | 1,132 | 2,448 | 0.462418 | 0.462418 | missense_variant | missense_variant |
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